Understanding Genetic Disorders: How DNA Influences Health

Syllabus

• Week 1

  Inheritance and Genetic Disease

  • Welcome!

    Welcome to the course. In this activity you'll get a chance to introduce yourself and meet the educators and your fellow learners.

  • Exploring Chromosomes

    We will dicuss the normal structure and function of chromosomes and learn about errors in their number and structure.

  • Genetic Traits and Inheritance

    Let's explore how to draw and analyze a family tree.

  • Genetic Case Study (Part 1)

    Over the four weeks of the course we will follow the genetic investigations for Ken Ross and his family, who were introduced at the start of the week.

  • What Have You Learned?

    In the final activity of week 1 you will have the opportunity to assess your progress and discuss how you've got on with other learners. We'll also look forward to week 2.

• Week 2

  DNA, Genes and Variants

  • Genotype To Phenotype

    In this activity we will cover the basic idea of 'Genotype to Phenotype' and learn what different alleles of a gene are.

  • Why Are We All Different?

    This activity examines the difference between variants and mutations and introduces some common genetic diseases.

  • How And Why Do Gene Variants Have Different Effects?

    In this activity you will look at the different kinds of variants that occur within genes, and how they can alter the function of the gene.

  • Genetic Case Study (Part 2)

    In the light of what you've learned this week it's now your turn to have a think about the genetic case study that we are following during the course.

  • What Have You Learned?

    In the final activity of week 2 you will have the opportunity to assess your progress and discuss how you've got on with other learners. We'll also look forward to week 3.

• Week 3

  Getting a Genetic Diagnosis

  • Test samples and cytogenetics analysis

    Here we look at the different requirements for blood samples depending on whether the sample will be used for chromosome analysis or DNA analysis. We'll also review some cytogenetics approaches.

  • Molecular (DNA) testing of single (or a few) genes

    In this section we will review approaches for diagnosis when there are useful clues (eg from the clinical features) about the gene(s) that might be altered. We'll also consider how to report the results of testing.

  • Molecular (DNA) testing for whole genome (or many genes together)

    This activity will look at DNA tests which are useful when there are few or no clues from clinical features about where in the genome the pathogenic variant might be.

  • Genetic Case Study (Part 3)

    Here we continue to follow the investigation of the Ross family and focus on the genetic diagnosis.

  • What Have You Learned?

    In the final activity of week 3 you will have the opportunity to assess your progress and discuss how you've got on with other learners. We'll also look forward to week 4.

• Week 4

  What Does Genetics Offer Patients?

  • Genetic Counselling

    In this activity you will learn more about the role of a genetic counsellor.

  • Approaches to genetic testing during (or before) pregnancy

    In this section we will look at various approaches that are used by some couples to avoid or minimize the risk of genetic conditions occurring in their children.

  • Ethics And Genetics

    Ethical issues permeate almost all aspects of genetics. Here we give you the opportunity to think about and discuss some key issues.

  • Therapy And Management

    How can an understanding genetics help with therapy? In this activity we will explore new appraoches to treating a range of conditions.

  • Genetic Case Study: Part 4

    Here we look at what can be offered to Ken Ross and his family, now that we know the pathogenic variant.

  • What Have You Learned?

    In the final activity of the course you will have the chance to test your learning and to reflect.

Who will you learn with?